KCNQ1 c.79_80delinsGC ;(p.S27A)

Variant ID: 11-2466407-AG-GC

NM_000218.2(KCNQ1):c.79_80delinsGC;(p.S27A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.

Heart Rhythm
Bartos, Daniel C DC; Giudicessi, John R JR; Tester, David J DJ; Ackerman, Michael J MJ; Ohno, Seiko S; Horie, Minoru M; Gollob, Michael H MH; Burgess, Don E DE; Delisle, Brian P BP
Publication Date: 2014-03

Variant appearance in text: Kv7.1: S27A
PubMed Link: 24269949
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulatory actions of the A-kinase anchoring protein Yotiao on a heart potassium channel downstream of PKA phosphorylation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kurokawa, Junko J; Motoike, Howard K HK; Rao, Jenny J; Kass, Robert S RS
Publication Date: 2004-11-16

Variant appearance in text: KCNQ1: S27A
PubMed Link: 15528278
Variant Present in the following documents:
  • Main text
View BVdb publication page